Blood pressure and kidney doc update

It was kind of a long day, but it was sort of my fault-they originally had scheduled the kidney ultrasound and then the appointment with the doctor right after, but I rescheduled (but it was for MEAP!) so the only way it worked out was ultrasound at 11 am, then kidney doctor appointment at 2 pm.  The ultrasound took maybe 25 minutes, so then we went to Yesterdog for lunch (definitely the highlight of the day.  I love that place!), which took us to like....12:15.  We drove around, drove by my dad's old house, back to the hospital, had some ice cream, rode the elevators, Seth got to do a revolving door...then headed up to the appointment early (I forgot my phone AND my watch-the horror!), I think around 1:30 or so.  We didn't end up seeing the actual doctor (a nurse, then a resident, but no doctor) till 3:00!  I was totally done.  Seth did fine though.  How my impatient 8 year old had more patience than me...well that says a lot, doesn't it? :) 

Anyway, his blood pressure wasn't too bad when they took it there, and she didn't say anything about the ultrasound.  We talked for a few minutes-went over his history and whatnot.  She asked if he had a "mild" form of Duchenne.  Umm.  No?  Since there is no such thing?  I mean, I guess I don't expect a kidney specilaist to be an expert in a neuromuscular disease, and I suppose that speaks to how good he looks, but still.  Then she did a brief exam and then said she wanted to do a 24-hour blood pressure monitor, which he didn't want put on then, because then he'd have to wear it to school.  So we went back Friday afternoon and they put it on-what a pain!  It's a good thing he didn't have to wear it to school.  It's a little bigger than a deck of cards, and then he had a cuff on his arm, plus 47 miles of tubing that we had to try to tuck up in his clothes.  The thing would take a reading every 20 minutes, every hour at night.  I was sort of keeping an eye on the readings, and they were at least in the 90th percentile, but more often higher-99th percentile and even off the chart a lot of times.

Ok, so I'm expecting them to put him on BP meds.  It's not like I want him to take another medication, but if it will help protect his heart, I'm all for it.  There are some studies that suggest ACE inhibitors are even good for prophylaxis for boys with DMD even before the cardiomyopathy sets in.  And I don't think there are any major side effects to worry about.  I get a call Thursday from their office saying that they downloaded the data, and it looked fine and they wouldn't treat him.  I was driving so I just said, "ok," and hung up, but I was confused.  I mean, maybe that's fine for an otherwise healthy kid, but since he's not, and since the heart failure is the way most DMD boys die (since the heart is a muscle-DMD affects smooth muscle in addition to skeletal muscle)...I talked to his pediatrician and she eventually talked to the kidney doctor and now they are going to treat him, so that's good.  It just gets tiring feeling like you have to fight for everything. 

But!  In happier news-five days till Disney!!  We are all beyond excited.  :)

A love/hate relationship

The kitty has recently been getting braver and actually coming upstairs.  It only took six months!  She finally decided to take her house back.  Now, if Romeo would just calm down....he snuffles her and bumps her with his nose and sniffs her butt and just will not leave her alone, till she gets mad and bats at him with her highly ineffective clawless paws.  Sometimes she even gets a clear shot to bite his ear...but he doesn't seem to care.  He is relentless.  He's just trying to play but since she is 1/5 his size and 10 times his age, she's not really that into it. 



 As you can see by her face, she is not amused by the ear sniffing. 



Right in the eye!!!

Maybe in another six months he won't try to gnaw on her every time she tries to walk anywhere.  Maybe she'll even want to lay by him.  Maybe.  

Family pictures!!

We had these done last weekend...some I like, some I don't....good thing we had a couple good ones to choose from I guess!  Here's the link to the site: Marc photography .  Just go to "proofing" and scroll down till you see "Hart family."  (I guess she didn't know it was HartZ?) 

Disney! And a few other things

The countdown has begun, four weeks to go!  We are going the week of Thanksgiving.  The kids are excited but it still doesn't seem real to them, I don't think.  I am REALLY looking forward to it, though!  We all need to get away and do something fun.  We booked a really nice kennel for Romeo, too, so he'll be getting a vacation too (even though I am going to feel bad for leaving him there...but I'm sure he'll be fine!) 

I am a little frustrated with some people on the PPMD message boards (which I think are public now, in case you are ever bored and want to read up) with the whole Ataluren thing.  I don't understand how someone could read that press release and say things like, "this is not news," and "I am losing hope with this one."  Did they read the same thing I did?  Because it looked to me like they were going to try to get it approved...there is a PPMD staff member whose role is mostly related to research, and even SHE seems to think that...she said, "there is precedence for drugs being approved on different endpoints after re-analyzing the data. That's why it's been so quiet over at PTC for so long--they've been frantically compiling evidence for the new drug application based on the low dose data (about 14,000 pages worth)."  I guess I understand that there are a lot of ups and downs when it comes to research, but this is the closest any med has ever gotten and I refuse to believe it's not going to get approved.  Hopefully that doesn't mean I'm in for a huge letdown.  There are people on there who post every new research tidbit, and it seems like people get more excited for the drugs that are in infancy stages and most likely will never even GET to human trials than for this one that is SO CLOSE.  Anyway.  Just a vent.

Another frustration, just with the disease in general-a boy who I think used to be a patient of our office that had DMD died in the last few days, he was 23.  I had never even met him, but everytime I hear about someone that has passed away, I think, "23...that's 15 years away for Seth."  And that's not enough time.  Hopefully we will have more, but it really gets me down, even though I shouldn't let it.  But it's impossible not to think that, to be hopeful and focus on the moment ALL THE TIME, as much as I try to.  And I am successful most of the time, I really am.  I was listening to a podcast interview with a lady whose twin sons have DMD and the interviewer said something to the effect that she just couldn't imagine, and how did the lady pick herself up off the floor?  And I was thinking, "you just do.  You HAVE to."  Even though your heart is broken and you feel so powerless, you have to get on with life. 

So this was supposed to be a happy post about Disney...but I wasn't feeling super happy, so there you have it. 

Super fantastic news!!!

More data from the Ataluren study has come out and it looks good!  ATALUREN

Some highlights:

 "We have initiated interactions with regulatory authorities to continue our efforts to bring ataluren to patients."

"These results suggest for the first time that a therapy which addresses the underlying cause of the disease can slow the loss of walking ability, the primary clinical symptom of dystrophinopathy"

"- 29.7 meter average change in 6-minute walk distance compared to placebo at 48 weeks - - Safety results show ataluren was generally well tolerated - - Data to be the basis of interactions with regulatory authorities "

They are finally moving ahead with submitting to the FDA!  I don't know how long that will take, but since it's on the "fast track" (which isn't fast enough in my opinion, but faster than other meds I suppose) hopefully Pat Furlong was right when she said next spring. 

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In a nutshell

I am really not that great at updating, am I?  So I will just try to cram it all in with one post.  Sorry if it's disorganized.  Seth is doing pretty well.  We are definitely seeing some slowing down...if only Ataluren would get approved already!  I was reading a post on the PPMD message boards and some guy was saying that he didn't think they would "risk" the medication for Duchenne since the data was not as good as they wanted, and would instead focus on the cystic fibrosis application of it instead, since maybe more money would be in that.  Of course that guy has no knowledge and it's just his opinion, but it's still discouraging...hopefully I will get to talk to Pat Furlong when she's in town next month and find out the REAL scoop.

We decided to take Seth to the MDA clinic in Cincinatti-Dr. Wong is there, and she is one of the best, from what we hear.  We may not see HER, but I'm sure whoever else is there is good too.  The main reason, besides their reputation, is that it's just getting really frustrating trying to schedule appointments with so many different specialists here, and if you go there, you see them all, all in one day.  It'll be a long day, but then it's all done for the year.  The thing that finally did me in was the pulmonary office.  Besides the fact that it takes seven months from the time of the referral to the time of the actual appointment...they are just not at all accomodating.  I called with what I thought was a good notice (three months) to see if we could maybe reschedule for a day we would already be in town to see Dr. Chadehumbe.  Nope.  She said that if we cancelled, we would go to the bottom of the list.  I said, "so...we go to the bottom of the list, wait for YOU to call us, then we have to take what ever appointment you give us?"  And she said, "yes."  Basically they will not work with you one iota to try to make the appointment work for you at all.  And they can't blame it on their scheduling system anymore, because the one they have now allows you to schedule whenever you want.  I have talked to other people about it and lots of people have problems with that office.  I plan to have a word with the office manager when I call to cancel our appointment for real. 

We have an appointment in a few weeks for a wheelchair evaluation.  He doesn't need one full time by any means, but it would be nice to have one for when we go places.  We met up with a bunch of families (I don't think I posted about that?) about a month ago with boys all around the same age as Seth, and everyone had something, whether a chair, or a big stroller type thing, or a scooter to use for that purpose.  Plus, our insurance only will cover DME every three years, so it's a good time to get something right now.  It will be just a regular wheelchair but will have power assist wheels-so he can push the wheels and they have motors in them that give him more force.  It will be nice to have, but it's still a big step that I'm not sure I'm ready for. 

I think that's about it...school is going well for both kids, they've started their faith formation (previously known as catechism) classes for the year...Anna is excited because her friend Maddie is in her class, so that's fun-they go to different schools this year so don't get to see each other much.  I will try to keep this more updated with regular day to day stuff.  I was talking to this other family about how the course of this disease is not such that things change super fast (well, too fast for my taste, but you know what I mean).  He's usually going to be about the same from one week to the next, so there aren't always a lot of updates to be had with regards to his health...so I will try to post other things. :)

The cast is off!

It was just really bothering me that they were leaving the cast on, so I called and left a message for the PA.  She called me back that evening and explained why she did it, but said if I really wanted it off, we could come in and she'd take it off and see if he was tender anywhere.  She was nice enough to squeeze us in before his bone density test today, so we headed in and they took it off and he wasn't tender, so she said he could just do a boot for the next 2-3 weeks.  He can take it off for swimming/bathing/stretching/etc., so that's nice for sure.  Maybe he doesn't even need it, but I was willing to compromise.  :)  So it probably isn't fractured, but he did something to it, so I guess I'm fine with keeping it supported for a few weeks. 

3 more weeks...

Saw ortho today-they did another x-ray that still did not show a fracture, but "just to be safe," they want to leave the cast on for three more weeks.  Which is frustrating.  I didn't want to make a big deal out of it, because I'm sure they are doing what they think is best, but is it really best to leave him in a cast for three more weeks when his muscles aren't like other kids, especially if there's not really anything wrong?  I thought of questions after we left-at that point I had listened to the kids fight for the last 1 1/2 hours and my brain was fried (this is why I prefer for Anna not to come to these appointments...)  Like-the doctor said at his last visit that IF it were fractured they would be able to tell on the x-rays they were taking today.  The PA we saw today said the bones were all aligned properly and they still did not see a fracture (bony reaction or otherwise).  So...why do we still need the cast?  They are going to x-ray it again in three weeks, so what that tells me is that there is still a chance (albeit small) that it IS a fracture.  SO why did the doctor last week tell me we'd know for sure by today??  Maybe he didn't actually tell me that, but it was definitely implied. 

Anyway.  I should be grateful that he's still able to walk on it and is getting around fine.  I'm just a little nervous what his ankle will be like when the cast comes off.  He's compensating when he walks, so I'm afraid once it's off, he will have a bit of a hard time getting back to walking normally.  And by then, school will be back in session...I just have to take things one step at a time, I know that, but it just seems like a lot of extra grief when there's probably not even anything wrong.  And I WOULD rather be safe, but I am just sick of cast life!!!

Buddies

Here's a picture of Seth and Romeo...and Seth's cast, since he wouldn't let me take a picture of that just for that.  Seth loves the dog-he likes to lay on the floor and let Romeo sniff and lick him all over his face.  He just lays there and cracks up.  He also likes to make the dog (and also me) crazy by doing various things to get him wound up.  Then he gets TOO wound up and jumps on Seth or something...you'd think the kid would learn, but apparently it's JUST.TOO.FUN. 

Also-notice Romeo's ears?  That one is always going all wonky.  It will either stick straight up, or stick out like in the picture, or sometimes even lay across the top of his head sideways.  I want to pin it down or something so he's not all funny looking.

Therapy frustration

I have not always been thrilled with the rehabilitation program we use for Seth.  Or I should say, we are forced to use for Seth, because it's pretty much the only one in town that treats kids with DMD, and the only one in town that has an aqua therapy component.  First there was the whole head gash thing, then that therapist and another one left around the same time, so they had no dedicated peds therapists so he had a parade of about three different ones (one of which must not work with little boys at ALL, she seemed to be at a loss as to how to keep him on task and interested).  I really do like the one they have now, but they are still not sure if she's going to be staying on full time into the fall or not...so there's all of that. 

Friday, I got a call from Seth's aqua therapist.  She really is great, Seth loves her, she can keep him interested for the whole hour session, she really knows her stuff....yeah, so she's quitting.  She's going to a land based therapy office-I didn't ask if she would see peds there or not, but they don't do aqua, so...not that it matters, since apparently they don't have anybody to take her place at the pool yet. 

I understand people leave, but it seems like MORE people leave from this particular place.  I have heard it's because they don't treat their therapists that well-make them see too many patients, too much paperwork, I'm sure they can get paid better at private institutions...and they don't have any plan in place whatsoever if somebody DOES decide to leave, so it's a big scramble.  It all frustrates me greatly.  So for now I guess he'll just do land therapy...I am going to look into Mary Free Bed in Grand Rapids-maybe, hopefully, they do late afternoon appointments so I wouldn't have to take him out of school really early, because it's about a half hour away on a good weather, good traffic day.  We'll just have to see what happens, I suppose.

Cardio and a cast

Seth had his yearly check with the cardiologist (who, I don't know if I mentioned this last year, I LOVE.  He is awesome.  Good doctor, great bedside manner) and everything looked good-same as last year pretty much.  They do an EKG and then an echo and he listens to his heart.  It looked good enough that he said we could wait two years to come back!  So that's good news.  His blood pressure is a little high, but it always has run on the high side.  I think we'll just see what it looks like at his physical in a couple weeks and talk to his doctor about it then.

The cast...ugh.  He fell (well, some kid pushed him) at day care on Tuesday and his foot/ankle/heel was hurting.  It didn't sound too terrible, so I didn't go get him right away, but when I went to pick him up, he still hadn't walked on it (about four hours later) and wouldn't, so I took him to ER.  They did an x-ray, which looked normal, but he still wouldn't put any weight on it, so to be safe, the doctor put him in a splint and told us to follow up with ortho in a few days.  We went to see them on Friday...they looked at the x-ray and said it looked fine, but if there was a fracture in the growth plate, it wouldn't show up on the x-ray until it started to heal, at which point there would be a "bony reaction" that would be visible on an x-ray.  The doctor thought that it probably was NOT a fracture, but since he couldn't know for sure, he had to cast it, because if he didn't and it ended up being a fracture, it would not be good.  So the plan is, cast for 10 days, then x-ray, and then *hopefully* cast off and go on our merry way.  We didn't talk about what we would do it if DID turn out to be a fracture...I figure I will worry about that if we need to.  His next ortho appointment is next week Wednesday.

Overall, he's doing fine.  They gave him a little shoe so he can walk on the cast.  We also got him a walker...at first he wouldn't walk on it at all and he was worried, and I figured it couldn't hurt to keep him that much more stable.  I am not sure he needs it as much as he thinks he does, but he thinks it's neat.  He is definitely way more excited than we are about it, that's for sure.  He also thought it was cool to ride in a wheelchair yesterday at the Air Zoo-again, way more excited about it than we were.  Of course there is the worry that if he has to be in a longer term cast, he will have a hard time getting his range of motion back...a lot of boys end up their chairs because of this very thing-they have a fracture and that's it.  I don't think that will be the case, though-he is walking on it and everything.  We'll have to see what his physical therapist thinks once the cast is off.  It's especially frustrating because at his last PT appointment, she was so excited because he had actually gained range in his ankles and legs, which is a huge accomplishment.  We'll just have to see what happens, I guess.

MDA clinic

Seth had MDA clinic with Dr. Chadehumbe today-he looks pretty good!  I always feel like I should have more questions-other people probably have more questions?  I just feel like right now he's doing fine and I have a pretty good handle on the stage he's in at the moment, so...she was pleased with his weight and height, which was an inch and a half up from the last time, which is pretty impressive!  So, so far, two of the big side effects of the deflazacort, growth stunting and weight gain, don't seem to be a problem-it helps that he's still pretty active.  It still seems like he is way shorter than other kids his age, but I've always thought that.  He's just below the 50th percentile for height.  I think kids around here just tend to be huge-all that Dutch heritage, maybe?  :) 

We also talked briefly about the PTC124/Ataluren-she didn't really have much to add, but it almost seemed like she was less optimistic than Pat Furlong about the timetable and when non-study boys could get it.  Have I mentioned how frustrating the whole thing is???  GIVE ME THE ATALUREN!  NOW!!!!!!  Sorry.  I am really, really trying to embrace the one day at a time philosophy so I don't start getting too anxious.  Dr. C thinks the medication works, too, though, which sounds like the general consensus in the community.  We did see a boy who we met at the telethon last year who was in the study-I remember his dad saying they were encouraged by his progress while taking the med.  He is 12 and not yet in a chair full time-he did look like he was slowing down quite a bit, but still getting around, so that's encouraging as well.  It makes me feel like maybe if Ataluren doesn't get approved for another year or two, it might still be ok. 

At the end of the visit the MDA lady came in and talked about camp AGAIN.  She wasn't so excited this time, probably because it just ended for this year.  I think that maybe Seth should go next year.  It does look fun.  We'll see, I suppose.

Eclipsing MD

This week I had the opportunity to help out at a fundraiser for Parent Project MD.  Anessa, a woman who lives in Grand Rapids whose 11 year old son has Duchenne, knows the Loeks family who owns Celebration Cinemas, and worked it out so that the West Michigan premiere of the new Twilight movie would be a fundraiser for PPMD.  I wasn't even planning on going, really, but another woman who was working with Anessa asked if I could come help.  And even though it was SO out of my comfort zone (meeting people I don't know, going by myself), I went, and I'm glad I did.

When I first got there, I couldn't find the woman who asked me to come so some people just shoved me somewhere, and then when I did find her she had me cut some cake...I don't think she really even needed me, but maybe she just wanted me to meet some people?  I don't know.  But I did meet some people, most amazingly, Pat Furlong, the woman who founded PPMD.  I got her story-her two sons were diagnosed in 1984, and at that time they didn't do anything for DMD boys.  She didn't like that, so she borrowed $100,000, went all over the place and just got a bunch of things going, basically (obviously there's more to the story than that).  Her boys died in the mid 90s, but she's still very involved in the cause.  A lot of what's going on today is because of this one woman.  It was awesome to meet her.

I also asked her about Ataluren...she has worked very closely with the company and she told me very encouraging things-that she really thinks the drug works, and although Seth wasn't in the trial and won't be able to have access right away, she believes it will come "soon" (I put that in quotes, because unless it's tomorrow, it's not soon enough for me, but compared to any other treatments, it's pretty soon).  I really hate to get my hopes up, but, well...I have.  They are just working through the steps they need to take for the regulatory path-to get this thing approved so we can drive our little car to the pharmacy and give them our little insurance card and they will give us the medicine. 

The whole event ended up raising $136,000, which is amazing.  I am just in awe that somebody can even pull something like that together!  I think I'm more of a helper than a planner.  I don't even have the first idea how to start, let alone having those kinds of connections!  But I know every little bit helps.  (speaking of-if you're so motivated, you can follow one of my links to the right and donate...the MDA is a great organization in a lot of ways, but PPMD is focused on Duchenne and Becker MD only, so donations to that organization are more likely to benefit boys like Seth, whereas the MDA supports a wide range of neuromuscular diseases). 

I also got to meet a couple of other families.  It's just nice to talk to people who know exactly what you're going through.  Like I said, even though I was way out of my element, I'm glad I went.

One year

The anniversary of Seth's diagnosis was about two weeks ago...I meant to do some big profound post, but the only thing I could think of was, "it sucks."  Because really-that's all there is to it.  I try to stay positive and hopeful about new treatments coming down the line, but when I'm starting to see little signs of weakening and decline, it definitely jerks me out of the happy place.  If this medication doesn't get approved within the next six months to a year...he'll probably still benefit, but I just would like to start slowing things down right now. 

A strange thing-in the space of two days I met two families with older boys with DMD, one of which lives on our street.  I had heard that there was a new third grade teacher at Seth's school (not new, just moved from another one) who has a teenage son with DMD.  There is a family that moved in maybe two summers ago that I knew had a boy in a wheelchair, and after Seth's diagnosis, I wondered if he did have DMD, but didn't see him much.  I saw him last week and thought for sure he did, so later his mom was out and I went and talked to her and it's the new teacher!  She is a very positive person-she said that of course she gets mad and discouraged, but she just keeps telling her son that there is going to be a treatment, a cure, and he is going to get out of that chair!  I admire that-I don't know if I'd already have to feel like that, or if it will come later...I want to be positive.  But at the same time, I want to be a realist because at some point reality is going to slap you in the face no matter how positive you are...I guess it's all a matter of how you deal with the reality.  And I would never be one to think that somebody isn't dealing with it the *right* way, because everybody experiences it differently.

Ok, so then two days (or was it even the next day?) later I was with the kids at an ice cream place and a van pulled up and I could see that there was somebody in a wheelchair in there, and when I looked closer I saw another one and then I thought to myself, "no way."  But sure enough, the boys got out and I was pretty sure they had DMD too!  While the mom was putting the van back together, I went and talked to her (honestly, I would never do this normally-I don't generally go up to complete strangers!).  Her sons are 15 and 20, and she said the younger one was in a chair by 9, and the other one walked till he was 12-and he definitely looked better even though he was older.  She said Seth looked pretty good and that her younger son was already really weak by Seth's age, so I guess that's somewhat encouraging.  What WASN'T encouraging was what the older one said when he found out Seth had DMD.  He said, "I feel sorry for your son."  Okaaaay.  Nothing like putting it all out there, right?  Anyway, we didn't talk too terribly long, but she took my phone number, so hopefully she'll call.  They live in Hudsonville, which makes it even stranger that we were at the same place at the same time...perhaps coincidence, perhaps not. 

So.  That's my big one year post.  It has been a hard year, but at the same time you do get to a new normal and there are always every day things that need to be done, and the kids are still fun and frustrating at times and everything every other kid is, and life goes on, even when I just want to put the brakes on it for five seconds.

Adolescence

That's what the puppy book calls this stage:  "When you and your puppy reach the budding adolescent stage, you may feel like hiding in the closet......Your puppy won't listen or respond to known directions.  He bolts, chases, and nips at everything that moves.  He demands your attention and barks when he doesn't get his way.  He insists on being the center of attention every moment of every day."  It's like they are living in our house!  Spooky.  I'm glad I read that though, because I was starting to think that maybe his true personality was coming out and that he really WAS a butthead.  Now at least I know it's a phase and eventually it will pass.  If I don't pack him up in a box and ship him off somewhere first.

What's new with Anna

At Seth's first communion

Teaching Romeo tricks



Learning how to ride a two-wheeler


Turning six!!

Anna's been busy just being Anna! She is almost done with kindergarten and is definitely ready for first grade. She's already reading chapter books! She comes up with some interesting words, though...she was looking at the back of her Where's Waldo book where they had the other books listed, and she asked me what one said. I said it was "Where's Waldo, the Fanstastic Journey." She thought a minute and said, "Oh! I thought it said 'Where's Waldo, the Fanciest Junior.' But then I thought, 'that doesn't make sense!'" She cracks me up.

She is trying to learn to ride a bike-the picture above is on a neighbor's little bike, which she can ride, but she won't try her bigger bike. Even though as you can see, she's way too big for that little one. I know she could do it if she would just overcome her fear, but you can't tell her that. I'm sure she'll be doing it in a few weeks.

I can't believe she's six already! That's like moving from little kid to big kid. I don't think I'm quite ready for that yet.

What's new with Seth

Seth turned eight on Marcy 26 (I know I'm behind!) Then he got baptized at the Easter Vigil, and took his first communion a couple weeks after that. The picture above is in front of church. As you can see he was very excited...he didn't want his shirt buttoned all the way up, didn't want to wear the tie, didn't want to do the whole thing at all. I don't know what his problem was. Eventually he cheered up, here he is below with the whole group and Father Charlie. That's Bella to the right.

He saved up his money from his baptism, birthday, and communion and bought himself an electric scooter. It goes 10 mph, he loves to just zoom around the neighborhood. As I try not to freak out and worry he's going to wipe out and break something or get hit by a car. This way he can at least go as fast as the other kids and not get tired so quickly.

He's doing pretty well overall, as his parents we notice the little things, but even his teacher said she didn't think he looked much different physically than he did at the beginning of the year. Summer's coming up so he'll have his round of appointments-MDA clinic, bone density test, cardiology in July. We finally got in with pulmonology in October. And we'll just keep taking it day by day.

Romeo, Romeo

Above and below-11 weeks old

I know this is super old news, but here's the story of our puppy...I had been wanting a dog for a while (which surprised people, but I don't know why. I love dogs! I just knew that I wasn't ready for one till now!), so I dragged Chappie to the pet expo in Grand Rapids even though he said, "we are NOT getting a dog!" We headed for the adoption area and I was thinking we wouldn't find one anyway, because most of the dogs there were older. Then at the back of the room we saw two little puppies sitting there. They both had black spots, but the one we liked had some brown on his face and ears. Chappie picked him up and it was all over-he wouldn't put him down till he was officially ours because he didn't want anyone else to get him.

Seth came up with the name-they were just trying to think of storybook/movie names and he thought of Romeo because of the movie Hotel for Dogs, but it fits because he has a big heart shaped spot on his back and he's a total lover. Especially of little kids. It's hard for him to contain his excitement sometimes.

16 weeks old

He's a really good dog-very smart and listens pretty well for a puppy. The vet said he thought he might get to be 60 lbs. He's a "shepherd mix," mixed with what, we don't know. When we first got him, as you can see, his ears stuck out, then one day one of them flipped, but the other one didn't, so he looked kind of goofy. The other one flipped a few days later, which I think made him even cuter.

Ataluren conference call

PPMD had a conference call with PTC, the company that is developing Ataluren, last week Thursday. They didn't really come out with any new amazing information, they were just re-stating what I had posted earlier about the low-dose seeming to work for the boys in the study. They DID say that they were working on/considering individual INDs for the boys in the study, meaning that they could have access to the medicine before it's approved. I guess an IND can apply to any investigational drug, but they don't always restrict it to study participants. Which in this case is frustrating, since Seth got diagnosed after the admission to the study was closed. Pat Furlong from PPMD said that this is what is needed for the "regulatory package" to get it approved by the FDA, and it is a "fine line" since many other diseases are caused by premature stops as well. But to that I say, well, THOSE diseases were not part of THIS study, so it's not such a fine line to only include boys with DMD with premature stops. Right? And while she said that all boys would have access once it's approved, and we're talking about a time frame of months, in a previous paragraph she says that the FDA MAY require another trial-which would mean more than months......it just seems unfair that Seth can't get it. I am trying to be hopeful and positive, but if some boys are getting the medicine, I WANT IT TOO!!! My logical mind understands the process, but my mother mind says screw the process. We know it's safe, and that it worked for most of the boys in the study, and that's all I need to know.

Apparently there is some conference in July and THEN we will know what the regulatory path forward will be-whether they will submit or have to do another trial. Which reminds me-somebody had posted that on of the study endpoints was a 12 meter or less decline in the 6 minute walk test, and the low dose group had a 13 meter decline (compared to a 48 meter decline for placebo/high dose groups). Seriously? They may not be able to submit because they missed the end point by one lousy meter?

Going along with all that, PPMD is working on some project to restructure the regulatory process for medicines for rare diseases, which will help this whole process in the future, so that will be good, but again, I need it now. I am so glad that there is research that is so advanced now, and I know it's for the greater good, but what about Seth and other boys like him? What about EACH boy? You know? I just wish there was more of a sense of urgency for them.

Carrier testing

My carrier testing showed that I am a carrier. Meaning either the mutation spontaneously happened in my genes, or my mom is a carrier, so my sisters will have to get tested. Anna will have to get tested too, since she'll have a 50% chance of being a carrier as well. They usually wait till adolescence, and if she is a carrier she will have to have an echocardiogram to make sure her heart looks ok, and then they keep an eye on it after that, since a small percentage of carriers can have heart problems. I'll have to have an echo too, so hopefully everything will be fine, there. It's kind of strange to think that I've had this in my body my whole life and had no idea. It was just sitting there, waiting. Ok, I know it wasn't waiting, but that's what it feels like.

As far as the Ataluren, the company that is developing it and PPMD are having a conference call on May 27 for an update on where the process is. I really hope it's good news. I mean, I know the FDA has regulations in place for drug testing for a reason, but if it looks like Ataluren will probably help a lot of boys, then I don't see why we can't just have it!!! It's very frustrating. I hope they don't have to do MORE trials...but if they do I hope Seth can get in and that they don't do a placebo arm this time. I would hate to have to go through all the visits and blood work and muscle biopsies just to find out he wasn't even getting the medication.

Anyway, those are the main updates right now. I plan to post more fun stuff soon. :) All about our crazy puppy and the crazy kids.